المؤلفون: Jonker AH; Health Technology and Services Research Department, Technical Medical Centre, University of Twente, Enschede, Netherlands.; International Rare Diseases Research Consortium, Paris, France., O'Connor D; International Rare Diseases Research Consortium, Paris, France.; ABPI, London, United Kingdom., Cavaller-Bellaubi M; International Rare Diseases Research Consortium, Paris, France.; EURORDIS-Rare Diseases Europe, Paris, France., Fetro C; International Rare Diseases Research Consortium, Paris, France.; Fondation Maladies Rares, Paris, France., Gogou M; International Rare Diseases Research Consortium, Paris, France.; Department of Neurology, Great Ormond Street Hospital for Children, London, United Kingdom., 't Hoen PAC; International Rare Diseases Research Consortium, Paris, France.; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, Netherlands., de Kort M; International Rare Diseases Research Consortium, Paris, France.; EATRIS ERIC, European Infrastructure for Translational Medicine, Amsterdam, Netherlands., Stone H; International Rare Diseases Research Consortium, Paris, France.; CURE ID, Office of Medical Policy, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MA, United States., Valentine N; International Rare Diseases Research Consortium, Paris, France.; Global Product Innovation, Pharmanovia, Value Added Medicines Committee, Medicines for Europe, Basildon, United Kingdom., Pasmooij AMG; International Rare Diseases Research Consortium, Paris, France.; Dutch Medicines Evaluation Board, Utrecht, Netherlands.

المصدر: Frontiers in medicine [Front Med (Lausanne)] 2024 Jan 17; Vol. 11, pp. 1352803. Date of Electronic Publication: 2024 Jan 17 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE

المؤلفون: Guerlich K; Child Health Foundation (Stiftung Kindergesundheit), c/o Dr. von Hauner Children's Hospital, Munich, Germany.; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany., Patro-Golab B; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany.; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN)., Barnacle A; Department of Interventional Radiology, Great Ormond St Hospital for Children, London, UK.; Cardiovascular and Interventional Radiological Society of Europe (CIRSE)., Baumann U; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paediatric Gastroenterology and Hepatology Hannover Medical School, Hannover, Germany., Eicken A; German Heart Center Munich, Munich, Germany.; Association for European Paediatric and Congenital Cardiology (AEPC).; European Society of Cardiology (ESC)., Fraser AG; European Society of Cardiology (ESC).; Department of Cardiology, University Hospital of Wales, Cardiff, UK.; Biomedical Alliance in Europe., Gruszfeld D; Neonatal Department and NICU, Children's Memorial Health Institute, Warsaw, Poland.; European Society for Pediatric and Neonatal Intensive Care (ESPNIC)., Haas NA; Division of Pediatric Cardiology and Intensive Care, LMU University Hospital, LMU, Munich, Germany., Jonker AH; University of Twente, Enschede, The Netherlands., Kammermeier M; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany., Kenny D; Association for European Paediatric and Congenital Cardiology (AEPC).; Children's Health Ireland (CHI) at Crumlin and Mater Hospitals, Dublin, Ireland., Kolaček S; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Medical Faculty, University of Zagreb, Zagreb, Croatia., Lapatto R; Children's Hospital, Helsinki University Hospital, Helsinki, Finland.; European Academy of Paediatrics (EAP).; European Society of Endocrinology (ESE).; European Society for Paediatric Endocrinology (ESPE).; Society for Study of Inborn Errors of Metabolism (SSIEM).; European Reference Network on Rare Endocrine Conditions (EndoERN).; European Reference Network for Hereditary Metabolic Disorders (MetabERN)., Maconochie I; Imperial College NHS Healthcare Trust, London, UK.; European Society for Emergency Medicine (EUSEM)., Mader S; Parent Organisation European Foundation for the Care of Newborn Infants (EFCNI), Munich, Germany., McGauran G; Health Products Regulatory Authority, Dublin, Ireland.; Royal College of Physicians of Ireland., Melvin T; School of Medicine, Trinity College Dublin, Dublin, Ireland., Muensterer O; Department of Pediatric Surgery, Dr. von Hauner Children's Hospital, LMU Medical Center, Munich, Germany.; European Paediatric Surgeons' Association (EUPSA)., Piscoi P; Health Technology Unit B6, Directorate General for Health (DG SANTE), European Commission, Brussels, Belgium., Romano A; Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Saxena AK; European Paediatric Surgeons' Association (EUPSA).; Chelsea and Westminster NHS Fdn Trust, Imperial College London, London, UK., Schneider DT; Klinikum Dortmund, University Witten/Herdecke, Dortmund, Germany.; German Society of Pediatrics and Adolescent Medicine (Deutsche Gesellschaft für Kinder- und Jugendmedizin - DGKJ)., Turner MA; European Academy of Paediatrics (EAP).; Department of Women's and Children's Health, Instiute of Life Cycle and Medical Sciences, University of Liverpool, Liverpool, UK.; Royal College of Paediatrics and Child Health.; European Society for Developmental, Perinatal and Paediatric Pharmacology.; conect4children., Walle JV; Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.; European Society of Pediatric Nephrology (ESPN), Chair of the European Pediatric Dialysis Working group (EPDWG).; International Pediatric Nephrology Association (IPNA).; European Rare Kidney Disease Reference Network (ERKNet)., Koletzko B; Child Health Foundation (Stiftung Kindergesundheit), c/o Dr. von Hauner Children's Hospital, Munich, Germany.; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany.; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; European Academy of Paediatrics (EAP).

مؤلفون مشاركون: European Academy of Paediatrics

المصدر: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2023 Nov; Vol. 112 (11), pp. 2440-2448. Date of Electronic Publication: 2023 Aug 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

المؤلفون: Jonker AH; IRDiRC, Paris, France. a.h.jonker@utwente.nl.; TechMed Centre, University of Twente, Hallenweg 5, Enschede, 7522 NH, The Netherlands. a.h.jonker@utwente.nl., Batista L; IRDiRC, Paris, France.; Chiesi Farmaceutici S.p.A, Parma, Italy., Gabaldo M; IRDiRC, Paris, France.; Fondazione Telethon, Milan, Italy., Hivert V; IRDiRC, Paris, France.; EURORDIS-Rare Diseases Europe, Paris, France., Ardigo D; IRDiRC, Paris, France.; Chiesi Farmaceutici S.p.A, Parma, Italy.

مؤلفون مشاركون: IRDiRC ODDG TF and IRDiRC TSC

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 03; Vol. 18 (1), pp. 229. Date of Electronic Publication: 2023 Aug 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Orphan Drug Production* , Rare Diseases*/drug therapy, Humans ; Drug Development

المؤلفون: Monaco L, Zanello G, Baynam G, Jonker AH, Julkowska D, Hartman AL, O'Connor D, Wang CM, Wong-Rieger D, Pearce DA

المصدر: Nature reviews. Drug discovery [Nat Rev Drug Discov] 2022 May; Vol. 21 (5), pp. 319-320.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101124171 Publication Model: Print Cited Medium: Internet ISSN: 1474-1784 (Electronic) Linking ISSN: 14741776 NLM ISO Abbreviation: Nat Rev Drug Discov Subsets: MEDLINE

مواضيع طبية MeSH: International Cooperation* , Rare Diseases*, Humans

المؤلفون: Southall NT; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. southalln@mail.nih.gov., Natarajan M; Rare Diseases Drug Discovery Unit, Takeda, Cambridge, MA, USA., Lau LPL; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.; IRDiRC Scientific Secretariat, Inserm-US14, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Paris, France., Deprez B; Université de Lille, Inserm, Institut Pasteur de Lille, U1177 - Drugs and Molecules for Living Systems, Lille, France.; Apteeus, Campus Institut Pasteur de Lille, Lille, France., Guilliams T; HealX, Cambridge, UK., Hunter L; University of Colorado, Denver School of Medicine, Denver, USA., Rademaker CM; University Medical Center Utrecht, Utrecht, the Netherlands., Hivert V; EURORDIS-Rare Diseases Europe, Paris, France., Ardigò D; Chiesi Farmaceutici SpA, Parma, Italy.

مؤلفون مشاركون: IRDiRC Data Mining and Repurposing Task Force

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Oct 15; Vol. 14 (1), pp. 225. Date of Electronic Publication: 2019 Oct 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Biomedical Research* , Data Mining* , Drug Repositioning*, Rare Diseases/*drug therapy, Big Data ; Databases, Factual ; Humans

المؤلفون: Nguyen MT; Center of Genomics and Policy, McGill University, Montreal, Quebec, H3A 0G1, Canada. thu.nguyen@mcgill.ca., Goldblatt J; University of Western Australia, Perth, Australia., Isasi R; Institute for Bioethics and Health Policy, University of Miami, Miami, USA., Jagut M; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Kaufmann P; AveXis, Chicago, USA., Ouillade L; AFM-Téléthon, Evry, France., Molnar-Gabor F; Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany., Shabani M; Centre for Biomedical Ethics and Law, Brussels, Belgium., Sid E; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, USA., Tassé AM; Center of Genomics and Policy, McGill University, Montreal, Quebec, H3A 0G1, Canada., Wong-Rieger D; Canadian Organization for Rare Disorders, Toronto, Canada., Knoppers BM; Center of Genomics and Policy, McGill University, Montreal, Quebec, H3A 0G1, Canada.

مؤلفون مشاركون: IRDiRC-GA4GH Model Consent Clauses Task Force

المصدر: BMC medical ethics [BMC Med Ethics] 2019 Aug 01; Vol. 20 (1), pp. 55. Date of Electronic Publication: 2019 Aug 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101088680 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6939 (Electronic) Linking ISSN: 14726939 NLM ISO Abbreviation: BMC Med Ethics Subsets: MEDLINE

مواضيع طبية MeSH: Biomedical Research/*ethics , Consent Forms/*standards , Informed Consent/*standards , Rare Diseases/*therapy, Biomedical Research/methods ; Biomedical Research/standards ; Consent Forms/ethics ; Humans ; Informed Consent/ethics

المؤلفون: Day S; Clinical Trials Consulting & Training Limited, 53 Portway, North Marston, Buckingham, Buckinghamshire, MK18 3PL, UK. simon.day@CTCT-Ltd.co.uk., Jonker AH; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Lau LPL; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Hilgers RD; Department of Medical Statistics, RWTH Aachen University, Aachen, Germany., Irony I; Center for Biologics Evaluation and Research/ Office of Tissues and Advanced Therapies, US Food and Drug Administration, Silver Spring, USA., Larsson K; Orphan Medicines, European Medicines Agency, London, UK., Roes KC; Julius Center for Health Sciences and Primary Care, UMC Utrecht, Utrecht, The Netherlands., Stallard N; Statistics and Epidemiology, Warwick Medical School, University of Warwick, Coventry, UK.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Nov 06; Vol. 13 (1), pp. 195. Date of Electronic Publication: 2018 Nov 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Rare Diseases*, Biomedical Research/*methods, Clinical Trials as Topic ; Humans ; Research Design

المؤلفون: Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Cutillo CM; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Lau LPL; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Rath A; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France., Julkowska D; Agence Nationale de la Recherche (ANR), Paris, France., Thomson D; Shire, Lexington, Massachusetts, USA, (until April 2017)., Terry SF; Genetic Alliance, Washington DC, USA., de Montleau B; EURORDIS-Rare Diseases Europe, Paris, France., Ardigò D; Corporate Drug Development, Chiesi Farmaceutici S.p.A., Italy., Hivert V; EURORDIS-Rare Diseases Europe, Paris, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia., Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Suematsu M; Japan Agency for Medical Research and Development (AMED), Tokyo, Japan., Incerti C; Sanofi Genzyme, Cambridge, Massachusetts, USA., Draghia-Akli R; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017)., Norstedt I; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017)., Wang L; National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA., Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

مؤلفون مشاركون: International Rare Diseases Research Consortium (IRDiRC)

المصدر: Clinical and translational science [Clin Transl Sci] 2018 Jan; Vol. 11 (1), pp. 21-27. Date of Electronic Publication: 2017 Oct 23.

نوع المنشور: Historical Article; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

مواضيع طبية MeSH: International Cooperation* , Intersectoral Collaboration*, Patient Participation/*trends , Rare Diseases/*diagnosis , Translational Research, Biomedical/*trends, Access to Information ; Goals ; Health Services Accessibility/organization & administration ; Health Services Accessibility/trends ; History, 21st Century ; Humans ; Information Dissemination ; Prevalence ; Rare Diseases/epidemiology ; Rare Diseases/etiology ; Rare Diseases/therapy ; Registries ; Translational Research, Biomedical/economics ; Translational Research, Biomedical/history ; Translational Research, Biomedical/organization & administration

المؤلفون: Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia., Draghia-Akli R; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017)., Lasko P; Department of Biology, McGill University, Montréal, Canada., Lau LPL; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Cutillo CM; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Rath A; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia., Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Le Cam Y; EURORDIS-Rare Diseases Europe, Paris, France., Hivert V; EURORDIS-Rare Diseases Europe, Paris, France., Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

مؤلفون مشاركون: International Rare Diseases Research Consortium (IRDiRC)

المصدر: Clinical and translational science [Clin Transl Sci] 2018 Jan; Vol. 11 (1), pp. 11-20. Date of Electronic Publication: 2017 Oct 23.

نوع المنشور: Historical Article; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

مواضيع طبية MeSH: Intersectoral Collaboration*, Advisory Committees/*organization & administration , International Cooperation/*history , Rare Diseases/*therapy , Translational Research, Biomedical/*organization & administration, Advisory Committees/history ; Advisory Committees/standards ; Clinical Trials as Topic ; Guidelines as Topic ; History, 21st Century ; Humans ; Prevalence ; Rare Diseases/diagnosis ; Rare Diseases/epidemiology ; Rare Diseases/etiology ; Translational Research, Biomedical/economics ; Translational Research, Biomedical/history ; Translational Research, Biomedical/standards

المؤلفون: Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK. Hanns.Lochmuller@newcastle.ac.uk., Torrent I Farnell J; Autonomous University of Barcelona, Barcelona, Spain., Le Cam Y; EURORDIS-Rare Diseases Europe, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Lau LP; IRDiRC Scientific Secretariat, Inserm US-14, Paris, France., Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, WA, Perth, Australia., Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, MD, USA., Dawkins HJ; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia., Lasko P; Department of Biology, McGill University, Montréal, QC, Canada., Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, MD, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.

مؤلفون مشاركون: IRDiRC Consortium Assembly

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Dec; Vol. 25 (12), pp. 1293-1302. Date of Electronic Publication: 2017 Nov 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Guidelines as Topic*, Human Genetics/*standards , Rare Diseases/*genetics, Human Genetics/organization & administration ; Humans ; International Cooperation ; Rare Diseases/diagnosis ; Rare Diseases/therapy